A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067461



Internal ID18809992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46202822..46383054hg38UCSC Ensembl
Innerchr17:44280188..44460420hg19UCSC Ensembl
Innerchr17:41635965..41815840hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38180233
hg19180233
hg18179876
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3242n100
Supporting Variantsnssv3557482, nssv3557477, nssv3557481, nssv3557479, nssv3557478, nssv3557480
Samples
Known GenesARL17A, ARL17B, KANSL1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067461
Frequency
Sample Size29084
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer